title: Hereditary motor and sensory neuropathy type 1 (HMSN1) associated with cranial neuropathy: an autopsy case report.
abstract: A family with hereditary motor and sensory neuropathy type 1 (HMSN1) is reported. Three patients suffered only pupillary abnormality, two patients showed Adie's syndrome and peripheral neuropathy, and one had cranial neuropathy. Adie's syndrome and severe peripheral neuropathy. Autopsy of the latter revealed reduction of myelinated nerve fibers in the trigeminal, facial and hypoglossal nerves. There was extensive degeneration of the posterior column of the spinal cord. At the anterior horns, loss of motor neurons was observed, particularly at the lumbar level. The anterior and posterior roots showed loss of myelinated fibers. HMSN1 is only rarely associated with cranial neuropathy, and this is probably the first autopsy-proved case.
authors.affiliation: Division of Neuropathology, Tottori University School of Medicine, Yonago, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Takase
authors.forename: K
authors.initials: K
authors.lastname: Takahashi
authors.forename: K
authors.initials: K
authors.lastname: Takada
authors.forename: H
authors.initials: H
authors.lastname: Tatsumi
authors.forename: Y
authors.initials: Y
authors.lastname: Tabuchi
mesh_terms: D000270:Adie Syndrome / Q000235:genetics / Q000473:pathology; D000328:Adult; D000368:Aged; D003389:Cranial Nerve Diseases / Q000235:genetics / Q000473:pathology*; D003391:Cranial Nerves / Q000473:pathology*; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009410:Nerve Degeneration / Q000502:physiology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D012583:Schwann Cells / Q000473:pathology; D013126:Spinal Nerve Roots / Q000473:pathology